National coordination of rare diseases

Duration:

1.5.2021–31.12.2027

Unit at THL:

Welfare State Research and Reform

On other websites:

Rare diseases affect more than 300,000 people in Finland. A disease is defined as a rare disease when it affects no more than one person per 2,000. The majority of rare diseases are still much rarer than this.

There are between 6,000 and 8,000 different rare diseases. The group of diseases includes many hereditary diseases and syndromes. However, many diseases that are relatively common, such as ovarian cancer, are included in rare diseases. In addition, many diseases such as cancers and neurodegenerative diseases are being divided into subtypes which are rare by themselves.

Treatment of rare diseases in Finland

The identification of rare diseases is challenging and often requires special expertise. Depending on the disease, patients with rare diseases are treated in different medical specialities. Knowledge, diagnostics, and prevention of rare diseases is concentrated on our country's five university hospitals. Their activities are coordinated by their units for rare diseases.
Currently, highly specific treatments are available only for a very small proportion of rare diseases.

National coordination

The Ministry of Social Affairs and Health has published a national programme for rare diseases. One of the objectives of the programme is national coordination of rare diseases, which is the responsibility of THL.
The coordination is supported by an expert working group on rare diseases, which includes representatives of both the authorities and professionals. Patient organisations are also represented.
The coordination is aimed at increasing information on rare diseases and developing the national service system and the network of actors in the field of rare diseases.

International cooperation

Projects funded by the European Commission aim to improve and harmonise diagnostics and treatment in the Member States.
Finland is involved in the activities of Orphanet and the party responsible for the activities is THL. The aim of the activities is to maintain and develop the Orphanet database for rare diseases and to implement the codes for rare diseases (ORPHAcodes) in national use.
The collaboration networks for rare diseases (ERN, European Reference Network) maintained by the European Commission bring together the centres of expertise for rare diseases of the Member States.

Each of the 24 networks has at least one centre of expertise from a Finnish university hospital. The networks enable transnational exchange of information and the collection of information on rare diseases.

Finland also participates in the Nordic cooperation on rare diseases. The Nordic Network of Rare Diseases (NNRD) brings together the authorities responsible for rare diseases in the Nordic countries and the representatives of patient organisations.